Tuesday, June 13, 2017

It's been hot in NYC for the past few days, and heat takes a real toll on Maya. After school yesterday she seemed content, but exhausted . . . and (interestingly?) her verbal speech basically evaporates when she is tired. (Evidence of the need to advocate for AAC for children who are sometimes capable of verbal speech . . . but I digress.)

She told me "No snack today" and I asked "Why didn't you eat your snack?" and she yelled "No!" and wouldn't/couldn't tell me more. So I gave her a snack, set her up with homework, and tried to ask a little bit about her day . . . but I got nothing in response. At all.

So I pulled out Mini, and sat at the table next to her. Without saying anything, I started to tap out the beginning of a sentence (in whisper mode so she couldn't hear what I was saying, because secrets are her kryptonite). And when I finished tapping out "I didn't have snack today because" I slid it over to her and she filled in the rest:

(image is a photo of Mini's screen, which reads "i didn't have snack today because I not open it mon". Maya calls me Mon instead of "mom.")

Victory! I got the information that I wanted (she's been having a bit of a snack stand-off for the past few days, so this answer makes sense to me). I decided to continue the game---I would write a sentence starter and then pass Mini over, and Maya could complete the sentence. It seemed win-win-win: good modeling, good home-use-of-AAC, and a good way to sway Maya into talking about her day.

I grabbed my phone to take a quick video clip, with the thought of sharing this story here. And I got a good one!

And a mediocre one!

And a lousy one!

And while it's kind of the norm to share highlights online, I thought I should just share all three . . . because real-life-AAC-family. In the first part, the strategy works. In the second, you'll hear a distracting little brother, bathroom talk, a mom-who's-trying-to-keep-everyone-focused-and-failing. You'll see Maya get tired, get distracted, and lose interest at different parts. And in the third section, it's just not happening. (Although I should note that AAC use by me, even when rejected by Maya, is still validating AAC as communication that I enjoy and am happy to use---so it's not a failure! It's just the least successful example here.)

Monday, June 5, 2017

Sometimes she speaks to acquaintances (neighbors, local friends) and I open my mouth to translate exactly as they open their mouth to respond to her, not needing my translation because they understood her just fine.

Other times (like in the video below) people (including me) think they understand, and respond as if they understand, and the conversation turns away from her message, and she often doesn't fight back to correct it.

Sometimes she is so tired in the afternoon, or when she isn't feeling well, or when she gets too hot or too cold or is somehow off-kilter, and she is silent again. She'll use Mini then, if I bring it to her and sit quietly with her and we take turns tapping things . . . but the quiet, the almost total lack of speech . . . it surprises me, too. Just as much as the talkative times do.

Once upon a time, we fit so clearly into the second A of AAC (augmentative and alternative communication)---her talker was an alternative form of communication, since speech wasn't accessible. Now we straddle the augmentative and alternative worlds---sometimes our device augments speech, sometimes it's an alternate method of communication, and sometimes we have to go and search for it because we haven't used it in hours (whoops).

The video below, in which Maya describes some drama from her bus ride home, is a snapshot of Maya's speech right now. The fact that it includes me responding incorrectly to something she says also shows how important AAC is for people who don't have reliably intelligible speech---she needs a way of clarifying what she says and she also needs a reliable communication method to use with people who won't understand her speech (or when her speech is difficult to access, like when she's tired). Because of this need for AAC, it's important that we keep modeling, so that she keeps her skills up to par, learns where new words are, doesn't forget the locations of other words, etc. It's much easier to drop the modeling ball when Maya herself is favoring speech---but we can't let ourselves off the hook, not if we want her AAC vocabulary to stay solid (and expand!).

Thursday, June 1, 2017

Back in December, I received a message from a blog reader inquiring about a particular syndrome, and whether Maya might have it (this happens from time to time). She was very nice and explained that Maya looks a lot like a relative of hers, who was recently diagnosed with a rare syndrome. (You may remember that our first exome sequencing was conducted in 2012 as part of a research project. At that time they identified a gene mutation as a possible causative issue for Maya, but we just filed that information away since there was no associated syndrome----yet. And then I intentionally pushed it to the way back of my mind and grew to mostly really enjoy being undiagnosed-ish.) After receiving this email, I dug back in my paperwork from our exome sequencing and found that this reader was naming the same gene that our research team had highlighted as probably-noteworthy-but-too-new-to-really-know (MED13L).

Fast forward to March, when we met with a new geneticist who happens to be connected to a group conducting research on this gene (actually on a whole group of genes, including this one). She re-ran our genetic sequencing (since the first sequence was done as part of research it wasn't in Maya's clinical file) and last week we found out that this round of testing confirmed the earlier result. Maya has a genetic mutation on the MED13L gene. The test also confirmed that this mutation (one little t nucleotide that should have been a c) was de novo, meaning that it was a chance occurrence (Dave and I were also tested and neither of us carries that mutation).

And so, Maya now has an official medical diagnosis. She has a rare genetic syndrome called MED13L syndrome. The information about this syndrome is pretty limited. There seem to be around 100 people (maybe? maybe less?) worldwide that currently carry this diagnosis, and it's rare enough that it's not even included yet on this list of rare diseases (interestingly, the criteria here for "rare" is 200,000 diagnoses or less, so 100 people is like . . . wow). As whole exome sequencing becomes a more common practice for children with unknown genetic conditions, we expect that the number of people diagnosed with MED13L syndrome will increase.

Right now, the disorder is only characterized by people who have been identified with the condition. While some of the characteristics that currently define the disorder are a match for Maya (for example, speech problems and ataxia--lack of balance) others are clearly not (for example, she does not exhibit short stature or have a cleft palate, and she has recently revisited a cardiologist and had bloodwork done to confirm that we have no concerns regarding cardiac malformations or leukemia).

If you think about the people most likely to pursue non-routine comprehensive genetic testing, many of them fall into a few categories: a) those with younger undiagnosed children, who may have access to this newer testing in a more routine manner (when Maya was tested, microarrays were a common last genetic step---now, it seems that exome sequencing is routinely offered to some), b) those who have older children who have continued to pursue non-routine genetic testing or follow up regularly with genetics, and c) those who get an email from a blog reader suggesting it. (I think that third category is pretty small). To that end, we don't expect to gain a lot of information about prognosis----because many of the children are young, and the older diagnosed individuals could disproportionately represent the characteristics of the condition. Basically, the data set is small, and small data sets are shaky. Also, we don't know if any of these individuals have had access to the communication and writing technology that Maya has been immersed in from toddler-hood (clearly, we would never have known how clever she is without her ability to write and talk with her device . . . and that lack of knowledge would have impacted her educational opportunities and general life path). What we do hope to find out from other families is possible medical information---what medications work well in our children, which don't, whether there are any complications to look out for, etc. And maybe to makes connections with a new community, too.

It's interesting to have a diagnosis after almost 9 years of not having one. In the beginning the diagnosis seemed desperately important, but at some point I really grew into being "undiagnosed"---I liked the absence of labels, the fact that no one could google a disorder and somehow think that they knew Maya, or what she might be capable of, based on an online blurb. I'm truly grateful for those undiagnosed years. So . . . bittersweet, I think. Or maybe not even all that meaningful. I'm not sure yet. I've got a lot to learn about, and a lot to process---and I'm sure that I'll share more about all of it as it unfolds, in time. But for right now this transition---this end-of-the-undiagnosed-ness--- it feels like the end of a chapter, and there's something to be said for finishing a chapter and turning the page to start the next one.

(Image is a montage of photos from Tuesday, Maya's 9th birthday, including: Maya and Will blowing out the candles on her cake, Maya and Will in her classroom for a special lunch party, Maya and Will sharing a hug, Maya smiling at a present, and Maya gazing happily at her new nutcracker)

(Image is the typed word "Undiagnosed", a blue marker has crossed out the "Un" and added a the date of our official diagnosis underneath, 5/25/17.)